Linked Data
dbSNP Id:
rs1019910059
gnomAD v2:
6-36648671-GTTA-G
gnomAD v3:
6-36680894-GTTA-G
gnomAD v4:
6-36680894-GTTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36680899_36680901del , CM000668.2:g.36680899_36680901del | GRCh38 |
| NC_000006.11:g.36648676_36648678del , CM000668.1:g.36648676_36648678del | GRCh37 |
| NC_000006.10:g.36756654_36756656del | NCBI36 |
| NG_009364.1:g.7218_7220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.-6+2101_-6+2103del MANE Select | ENSP00000244741.6:n.-6+2101_-6+2103del | |
| ENST00000244741.9:c.-6+2101_-6+2103del | ENSP00000244741.5:n.-6+2101_-6+2103del | |
| ENST00000373711.3:c.-96-1741_-96-1739del | ENSP00000362815.1:n.-96-1741_-96-1739del | |
| ENST00000405375.5:c.-6+1960_-6+1962del | ENSP00000384849.1:n.-6+1960_-6+1962del | |
| ENST00000448526.6:c.-6+2966_-6+2968del | ENSP00000409259.3:n.-6+2966_-6+2968del | |
| ENST00000459970.1:n.189+2966_189+2968del | ||
| ENST00000478800.1:n.214+1960_214+1962del | ||
| ENST00000615513.4:c.-5-3198_-5-3196del | ENSP00000482768.1:n.-5-3198_-5-3196del | |
| NM_000389.4:c.-6+2101_-6+2103del | NP_000380.1:n.-6+2101_-6+2103del | |
| NM_001220777.1:c.-5-3198_-5-3196del | NP_001207706.1:n.-5-3198_-5-3196del | |
| NM_001220778.1:c.-6+1960_-6+1962del | NP_001207707.1:n.-6+1960_-6+1962del | |
| NM_001291549.1:c.97+2966_97+2968del | NP_001278478.1:n.97+2966_97+2968del | |
| NM_078467.2:c.-6+2966_-6+2968del | NP_510867.1:n.-6+2966_-6+2968del | |
| XM_011515041.1:c.*45_*47del | XP_011513343.1:n.*45_*47del | |
| NM_000389.5:c.-6+2101_-6+2103del MANE Select | NP_000380.1:n.-6+2101_-6+2103del | |
| NM_001220777.2:c.-5-3198_-5-3196del | NP_001207706.1:n.-5-3198_-5-3196del | |
| NM_001220778.2:c.-6+1960_-6+1962del | NP_001207707.1:n.-6+1960_-6+1962del | |
| NM_001291549.3:c.97+2966_97+2968del | NP_001278478.1:n.97+2966_97+2968del | |
| NM_001374509.1:c.97+2966_97+2968del | NP_001361438.1:n.97+2966_97+2968del | |
| NM_001374510.1:c.35-3198_35-3196del | NP_001361439.1:n.35-3198_35-3196del | |
| NM_001374511.1:c.-6+2101_-6+2103del | NP_001361440.1:n.-6+2101_-6+2103del | |
| NM_001374512.1:c.-6+2101_-6+2103del | NP_001361441.1:n.-6+2101_-6+2103del | |
| NM_001374513.1:c.-6+1994_-6+1996del | NP_001361442.1:n.-6+1994_-6+1996del | |
| NM_078467.3:c.-6+2966_-6+2968del | NP_510867.1:n.-6+2966_-6+2968del |